Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan

Neurology. 2009 Dec 15;73(24):2124-6. doi: 10.1212/WNL.0b013e3181c67be0.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Asian Continental Ancestry Group / genetics*
  • Electromyography
  • Guanine Nucleotide Exchange Factors / genetics*
  • Heterozygote*
  • Humans
  • Leg
  • Male
  • Muscle, Skeletal / physiopathology
  • Mutation*
  • Siblings
  • Tongue
  • Young Adult

Substances

  • ALS2 protein, human
  • Guanine Nucleotide Exchange Factors